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Q9NNX1

- TUFT1_HUMAN

UniProt

Q9NNX1 - TUFT1_HUMAN

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Protein
Tuftelin
Gene
TUFT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Involved in the mineralization and structural organization of enamel.

GO - Molecular functioni

  1. structural constituent of tooth enamel Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. bone mineralization Source: UniProtKB
  2. odontogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Tuftelin
Gene namesi
Name:TUFT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:12422. TUFT1.

Subcellular locationi

Secreted By similarity
Note: Secreted at a very early stage of enamel formation, concentrated at the dentin-enamel junction and tightly bound to the surface of the growing crystallites By similarity.

GO - Cellular componenti

  1. cytoplasm Source: LIFEdb
  2. extracellular region Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37084.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 390390Tuftelin
PRO_0000183186Add
BLAST

Proteomic databases

MaxQBiQ9NNX1.
PaxDbiQ9NNX1.
PRIDEiQ9NNX1.

PTM databases

PhosphoSiteiQ9NNX1.

Expressioni

Gene expression databases

ArrayExpressiQ9NNX1.
BgeeiQ9NNX1.
CleanExiHS_TUFT1.
GenevestigatoriQ9NNX1.

Organism-specific databases

HPAiHPA028112.

Interactioni

Subunit structurei

Interacts with TFIP11 By similarity.

Protein-protein interaction databases

BioGridi113137. 6 interactions.
IntActiQ9NNX1. 5 interactions.
MINTiMINT-4716691.
STRINGi9606.ENSP00000357842.

Structurei

3D structure databases

ProteinModelPortaliQ9NNX1.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili88 – 12639 Reviewed prediction
Add
BLAST
Coiled coili162 – 351190 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the tuftelin family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG40140.
HOVERGENiHBG056992.
InParanoidiQ9NNX1.
OrthoDBiEOG7CZK5X.
PhylomeDBiQ9NNX1.
TreeFamiTF331627.

Family and domain databases

InterProiIPR024846. Tuftelin.
[Graphical view]
PANTHERiPTHR23171:SF4. PTHR23171:SF4. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NNX1-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT    50
YAMVSSHSAG HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK 100
SEVQYIQEAR NCLQKLREDI SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS 150
PTALYSSPPE VDTCINEDVE SLRKTVQDLL AKLQEAKRQH QSDCVAFEVT 200
LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME TEHQALLAKV 250
REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR 300
KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK 350
QISHGNFSTQ ARAKTENPGS IRISKPPSPK PMPVIRVVET 390
Length:390
Mass (Da):44,264
Last modified:October 1, 2000 - v1
Checksum:i332AF3C06665E8D0
GO
Isoform 2 (identifier: Q9NNX1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-45: Missing.

Show »
Length:365
Mass (Da):41,546
Checksum:i3A12985BF4AC3033
GO
Isoform 3 (identifier: Q9NNX1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-79: Missing.

Show »
Length:331
Mass (Da):37,929
Checksum:i9F858A5CE5FBB30A
GO

Sequence cautioni

The sequence BAB15615.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181Q → R.
Corresponds to variant rs3828054 [ dbSNP | Ensembl ].
VAR_052424
Natural varianti296 – 2961K → R.
Corresponds to variant rs16833395 [ dbSNP | Ensembl ].
VAR_034574

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei21 – 7959Missing in isoform 3.
VSP_006686Add
BLAST
Alternative sequencei21 – 4525Missing in isoform 2.
VSP_006685Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti244 – 2441Q → R in BAB15615. 1 Publication
Sequence conflicti329 – 3291K → T in BAB15615. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF254860
, AF254850, AF254851, AF254852, AF254854, AF254855, AF254856, AF254857, AF254858, AF254859 Genomic DNA. Translation: AAF78914.1.
AF254260 mRNA. Translation: AAF78913.1.
AL136917 mRNA. Translation: CAB66851.1.
AK026989 mRNA. Translation: BAB15615.1. Different initiation.
AK075001 mRNA. Translation: BAC11346.1.
AK315414 mRNA. Translation: BAG37804.1.
AL365436 Genomic DNA. Translation: CAI16591.1.
AL365436 Genomic DNA. Translation: CAI16592.1.
CH471121 Genomic DNA. Translation: EAW53429.1.
CH471121 Genomic DNA. Translation: EAW53430.1.
CH471121 Genomic DNA. Translation: EAW53431.1.
CH471121 Genomic DNA. Translation: EAW53433.1.
BC002933 mRNA. Translation: AAH02933.1.
BC008301 mRNA. Translation: AAH08301.1.
CCDSiCCDS1000.1. [Q9NNX1-1]
CCDS44223.1. [Q9NNX1-2]
RefSeqiNP_001119809.1. NM_001126337.1. [Q9NNX1-2]
NP_064512.1. NM_020127.2. [Q9NNX1-1]
UniGeneiHs.489922.

Genome annotation databases

EnsembliENST00000353024; ENSP00000343781; ENSG00000143367. [Q9NNX1-3]
ENST00000368848; ENSP00000357841; ENSG00000143367. [Q9NNX1-2]
ENST00000368849; ENSP00000357842; ENSG00000143367. [Q9NNX1-1]
GeneIDi7286.
KEGGihsa:7286.
UCSCiuc001eyl.3. human. [Q9NNX1-1]
uc001eym.3. human. [Q9NNX1-2]

Polymorphism databases

DMDMi22096213.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF254860
, AF254850 , AF254851 , AF254852 , AF254854 , AF254855 , AF254856 , AF254857 , AF254858 , AF254859 Genomic DNA. Translation: AAF78914.1 .
AF254260 mRNA. Translation: AAF78913.1 .
AL136917 mRNA. Translation: CAB66851.1 .
AK026989 mRNA. Translation: BAB15615.1 . Different initiation.
AK075001 mRNA. Translation: BAC11346.1 .
AK315414 mRNA. Translation: BAG37804.1 .
AL365436 Genomic DNA. Translation: CAI16591.1 .
AL365436 Genomic DNA. Translation: CAI16592.1 .
CH471121 Genomic DNA. Translation: EAW53429.1 .
CH471121 Genomic DNA. Translation: EAW53430.1 .
CH471121 Genomic DNA. Translation: EAW53431.1 .
CH471121 Genomic DNA. Translation: EAW53433.1 .
BC002933 mRNA. Translation: AAH02933.1 .
BC008301 mRNA. Translation: AAH08301.1 .
CCDSi CCDS1000.1. [Q9NNX1-1 ]
CCDS44223.1. [Q9NNX1-2 ]
RefSeqi NP_001119809.1. NM_001126337.1. [Q9NNX1-2 ]
NP_064512.1. NM_020127.2. [Q9NNX1-1 ]
UniGenei Hs.489922.

3D structure databases

ProteinModelPortali Q9NNX1.
ModBasei Search...

Protein-protein interaction databases

BioGridi 113137. 6 interactions.
IntActi Q9NNX1. 5 interactions.
MINTi MINT-4716691.
STRINGi 9606.ENSP00000357842.

PTM databases

PhosphoSitei Q9NNX1.

Polymorphism databases

DMDMi 22096213.

Proteomic databases

MaxQBi Q9NNX1.
PaxDbi Q9NNX1.
PRIDEi Q9NNX1.

Protocols and materials databases

DNASUi 7286.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000353024 ; ENSP00000343781 ; ENSG00000143367 . [Q9NNX1-3 ]
ENST00000368848 ; ENSP00000357841 ; ENSG00000143367 . [Q9NNX1-2 ]
ENST00000368849 ; ENSP00000357842 ; ENSG00000143367 . [Q9NNX1-1 ]
GeneIDi 7286.
KEGGi hsa:7286.
UCSCi uc001eyl.3. human. [Q9NNX1-1 ]
uc001eym.3. human. [Q9NNX1-2 ]

Organism-specific databases

CTDi 7286.
GeneCardsi GC01P151513.
HGNCi HGNC:12422. TUFT1.
HPAi HPA028112.
MIMi 600087. gene.
neXtProti NX_Q9NNX1.
PharmGKBi PA37084.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40140.
HOVERGENi HBG056992.
InParanoidi Q9NNX1.
OrthoDBi EOG7CZK5X.
PhylomeDBi Q9NNX1.
TreeFami TF331627.

Miscellaneous databases

ChiTaRSi TUFT1. human.
GeneWikii Tuftelin.
GenomeRNAii 7286.
NextBioi 28487.
PROi Q9NNX1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NNX1.
Bgeei Q9NNX1.
CleanExi HS_TUFT1.
Genevestigatori Q9NNX1.

Family and domain databases

InterProi IPR024846. Tuftelin.
[Graphical view ]
PANTHERi PTHR23171:SF4. PTHR23171:SF4. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Hepatoma and Tongue.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Kidney and Placenta.
  7. "Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization."
    Deutsch D., Palmon A., Young M.F., Selig S., Kearns W.G., Fisher L.W.
    Mamm. Genome 5:461-462(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Entry informationi

Entry nameiTUFT1_HUMAN
AccessioniPrimary (citable) accession number: Q9NNX1
Secondary accession number(s): B2RD57
, D3DV21, D3DV22, Q5T384, Q5T385, Q9BU28, Q9H5L1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 2, 2002
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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